Variant report

Variant	esv3388045
Chromosome Location	chr2:168289403-168424317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:168385896..168387785-chr2:168389352..168392165,2	K562	blood:
2	chr2:168385896..168387785-chr2:168389352..168392165,2	K562	blood:
3	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:
4	chr2:168342324..168343828-chr2:168369519..168372114,2	K562	blood:
5	chr2:168350817..168353056-chr2:168354971..168356552,2	K562	blood:
6	chr2:168406722..168407375-chr2:168975138..168975697,2	MCF-7	breast:
7	chr2:168120652..168121595-chr2:168406649..168407520,3	MCF-7	breast:
8	chr2:168324852..168326920-chr2:168327709..168329864,2	MCF-7	breast:
9	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
10	chr2:168412011..168414014-chr2:168467499..168469834,2	K562	blood:
11	chr2:168350817..168353056-chr2:168354971..168356552,2	K562	blood:
12	chr2:167395944..167396563-chr2:168406690..168407659,4	MCF-7	breast:
13	chr2:168342324..168343828-chr2:168369519..168372114,2	K562	blood:
14	chr2:168324852..168326920-chr2:168327709..168329864,2	MCF-7	breast:
15	chr2:168407166..168410060-chr2:168411860..168414676,3	K562	blood:
16	chr2:168408100..168409906-chr2:168410906..168413122,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XIRP2-2	chr2:168394047-168394068	NONHSAT075311
2	lnc-XIRP2-1	chr2:168346687-168346787	XLOC_001742
3	lnc-XIRP2-2	chr2:168393862-168393995	NONHSAT075311
4	lnc-XIRP2-2	chr2:168357672-168358076	NONHSAT075311
5	lnc-XIRP2-2	chr2:168351651-168352135	NONHSAT075311
6	lnc-XIRP2-1	chr2:168414647-168414843	XLOC_001742
7	lnc-XIRP2-2	chr2:168393469-168395482	NONHSAT075312

No data

Extended variants
information (count: 5482 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:5482 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531760808	chr2:168289445-168289446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564571604	chr2:168289460-168289461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138435478	chr2:168289466-168289467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373839033	chr2:168289503-168289504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566111087	chr2:168289532-168289533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141333529	chr2:168289576-168289577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547541799	chr2:168289580-168289581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553719999	chr2:168289582-168289583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144710871	chr2:168289605-168289606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10221661	chr2:168289623-168289624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550487099	chr2:168289656-168289657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141175320	chr2:168289661-168289662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150716828	chr2:168289662-168289663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558591317	chr2:168289681-168289682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565742119	chr2:168289712-168289713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368600402	chr2:168289804-168289805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534724969	chr2:168289818-168289819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73023863	chr2:168289824-168289825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574603421	chr2:168289834-168289835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137864763	chr2:168289840-168289841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374256927	chr2:168289857-168289858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75966258	chr2:168289860-168289861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542777723	chr2:168289895-168289896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576024057	chr2:168289923-168289924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544953398	chr2:168289968-168289969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192529507	chr2:168289978-168289979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534652933	chr2:168289998-168289999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572711396	chr2:168290023-168290024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368187019	chr2:168290024-168290025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73023865	chr2:168290029-168290030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541533249	chr2:168290049-168290050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561311770	chr2:168290063-168290064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147209524	chr2:168290065-168290066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550206394	chr2:168290100-168290101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140541975	chr2:168290104-168290105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144386320	chr2:168290111-168290112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202027272	chr2:168290144-168290145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183762836	chr2:168290163-168290164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113334190	chr2:168290164-168290165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144309008	chr2:168290190-168290191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552168815	chr2:168290271-168290272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568180894	chr2:168290282-168290283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534685323	chr2:168290283-168290284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189261569	chr2:168290308-168290309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74586560	chr2:168290326-168290327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73023866	chr2:168290378-168290379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142303487	chr2:168290391-168290392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181968197	chr2:168290417-168290418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372404093	chr2:168290436-168290437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112303519	chr2:168290468-168290469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168278000-168292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:168284800-168294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:168287400-168289800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:168288600-168293200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:168288800-168294400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:168289000-168300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:168289800-168294000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:168292400-168292600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:168292400-168292800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:168292600-168292800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:168292800-168293600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:168293200-168295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:168293600-168295200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:168293600-168295600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:168294000-168295200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:168294000-168295400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:168294000-168295600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:168294000-168295800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:168294200-168295400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:168294200-168295400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:168294200-168295400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:168294400-168294800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:168294400-168295400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:168294400-168295600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:168294600-168295000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:168294600-168295400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:168294800-168295400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:168294800-168295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:168295000-168295200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr2:168295000-168295600	Enhancers	NH-A	brain
31	chr2:168295200-168295600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:168295200-168295600	Enhancers	NHLF	lung
33	chr2:168295200-168295800	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:168295400-168303200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:168295600-168297600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:168297600-168297800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:168303200-168303400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr2:168303600-168304600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr2:168304000-168307200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr2:168304200-168304600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:168304200-168304800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr2:168304600-168304800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr2:168304600-168308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:168304600-168308000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:168306200-168306400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr2:168306400-168307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:168307200-168307800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:168307800-168308600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:168308000-168308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:168308000-168308400	Enhancers	H1 Cell Line	embryonic stem cell

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